Sensorineural deafness and male infertility: The main characteristics of the disease are deafness and infertility. [nipt.ng]

January 01, 2017 Maternal uniparental disomy of chromosome 15 and concomitant STRC and CATSPER2 deletion-mediated deafness-infertility syndrome. January 01, 2017 [medscape.com]

Angelman syndrome (AS) 608636 snoRNAs cluster 15q11.2-q12 Loss Chromosome 15q11-q13 duplication syndrome UBE3A, AS-SRO 15q11.2-q14 Gain 612001 UBE3A, GABRB3, 15q13.3 microdeletion syndrome 611102 GABRB4, GABRG3 15q13.3 Loss Sensorineural deafness and male infertility [anyflip.com]

[…] associated with large-headed multiflagellar polyploid spermatozoa Male infertility due to NANOS1 mutation Male infertility with normal virilization due to maturation arrest Male infertility with normal virilization due to meiosis defect Male pseudohermaphroditism [csbg.cnb.csic.es]

This richly illustrated, full color text covers areas such as: malformations; refractive errors, the cornea, glaucoma and cataracts; retina and the optic nerve; eye movement disorders, and systemic disease of the eye. [books.google.com]

This richly illustrated title covers areas such as: malformations; refractive errors, the cornea, glaucoma and cataracts; retina and the optic nerve; eye movement disorders, and systemic disease of the eye. [books.google.de]

We report the clinical and molecular characterization of a female newborn, whose phenotype was characterized by poor growth, dysmorphic facial features, subclinical hypothyroidism, and mild reduction of CD3CD8 Lymphocytes with increased CD4/CD8 ratio. [ncbi.nlm.nih.gov]

[…] pneumonia Widow's peak Abnormality of the pharynx Volvulus Abnormality of the nasopharynx Intestinal lymphangiectasia Bladder exstrophy Right aortic arch Recurrent aspiration pneumonia Exstrophy Posterior pharyngeal cleft Abnormality of the skeletal [mendelian.co]

Duration*: 24 – 48 hours Tumour FISH using bone marrow sample (minimum 10 x 10 6 mononuclear cells) 5 – 10 ml heparinised bone marrow aspirate Duration*: 5 – 10 days or Leukemia blood (blast count 20 %) 5 – 10 ml heparinised peripheral blood Duration* [bioscientia-humangenetik.de]

Hairy cell leukemia (HCL) is an indolent B-cell neoplasm with “hairy cells” in the peripheral blood and bone marrow aspirates, and characteristic BRAF V600E mutation. [mdpi.com]

Disease Ontology : 12 A chromosomal deletion syndrome that is characterized by microcephaly, dysmorphic facies, psychomotor delay and failure to thrive, has material basis in isolated cases of partial deletion of the long arm of chromosome 14. [malacards.org]

Atrophic scars Disproportionate tall stature Soft skin Muscular hypotonia Graves disease Pointed chin Erythema Deep philtrum Flat occiput Inverted nipples Low hanging columella Mitral stenosis Gastrointestinal dysmotility Oval face Infra-orbital crease Failure [mendelian.co]

[…] to thrive ACCV Aceruloplasminemia Acetazolamide-responsive congenital myotonia Acetazolamide-responsive myotonia Achalasia - addisonianism - alacrima syndrome ACHM Achondrogenesis type 1A Achondrogenesis type 1B Achondrogenesis type 2 Achondrogenesis [csbg.cnb.csic.es]

fullness Prominent nose Peripheral demyelination Decreased fetal movement Wide anterior fontanel Decreased body weight Hyperbilirubinemia Cholelithiasis Central hypotonia Scaphocephaly Renal tubular dysfunction Abnormal cortical bone morphology Delayed [mendelian.co]

Disease Ontology : 12 A chromosomal deletion syndrome that is characterized by microcephaly, dysmorphic facies, psychomotor delay and failure to thrive, has material basis in isolated cases of partial deletion of the long arm of chromosome 14. [malacards.org]

The sSMC was due to an unbalanced translocation between part of the long arm of chromosome 14 (14q11.2) and the terminal region of the short arm of chromosome 16 (16pter-p13.13), which led to duplications of these two chromosomal regions. [molecularcytogenetics.biomedcentral.com]

A negative association between the presence of dup(1q) and deletions of the long arm of chromosome 6 [del(6q)] has been reported previously in high hyperdiploid childhood ALL ( 5 ). [pnas.org]

MalaCards based summary : Chromosome 14q11-Q22 Deletion Syndrome, is also known as 14q11.2 microdeletion syndrome, and has symptoms including seizures and muscle spasticity. [malacards.org]

Affiliated tissues include eye, and related phenotypes are hypertelorism and depressed nasal bridge [malacards.org]

hypertelorism-hypospadias syndrome, telecanthus-hypospadias syndrome Related symptoms: Intellectual disability Global developmental delay Pica Hypertelorism Sensorineural hearing impairment SOURCES: OMIM ORPHANET More info about OPITZ GBBB SYNDROME, [mendelian.co]

And Other Facial Dysmorphism, Brachydactyly, Genitalabnormalities, Mental Retardation, And Recurrent Inflammatory Episodes Hypertelorism And Tetralogy Of Fallot Hypertelorism, Teebi Type Hypertrichotic Osteochondrodysplasia Hypertrichotic Osteochondrodysplasia [familydiagnosis.com]

Many patients present with mild facial dysmorphism (e.g. malar flatness, ptosis, hypertelorism, epicanthal folds, prominent nasal root) and vertebral anomalies (e.g. butterfly vertebrae, hemivertebrae). 75% of patients have an immune deficiency due to [orpha.net]

Retardation Syndrome Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis Apert Syndrome Aspartylglucosaminuria Atelosteogenesis, Type I Atelosteogenesis [familydiagnosis.com]

retardation - progressive brain atrophy - basal ganglia disease Infantile spasms Infantile spinal muscular atrophy Infantile subacute necrotizing encephalopathy with leukodystrophy Infantile subacute necrotizing encephalopathy with nephrotic syndrome [csbg.cnb.csic.es]

MalaCards based summary : Chromosome 14q11-Q22 Deletion Syndrome, is also known as 14q11.2 microdeletion syndrome, and has symptoms including seizures and muscle spasticity. [malacards.org]

In some cases features such as microcephaly, cleft palate, clubfeet, seizures, and short stature are present. [nipt.ng]

Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. [mendelian.co]

Syndrome 1 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism,And Congenital Heart Defects Multiple Sulfatase Deficiency [familydiagnosis.com]

Learn more about how to achieve it with Mendelian Learn more Other signs and symptoms that you may find interesting Hyperreflexia and Oral cleft, related diseases and genetic alterations Depressed nasal bridge and Open mouth, related diseases and genetic [mendelian.co]

Sensorineural deafness with dilated cardiomyopathy Sensorineural deafness with imperforate anus and hypoplastic thumbs Sensorineural hearing loss - pontobulbar palsy Sensorineural hearing loss with dilated cardiomyopathy Sensory ataxic neuropathy - dysarthria [csbg.cnb.csic.es]